Ellis-Van Creveld Syndrome

"Ellis-Van Creveld Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

Descriptor ID	D004613
MeSH Number(s)	C05.116.099.708.327 C16.131.077.350.398 C16.131.831.350.398 C16.320.850.250.398 C17.800.804.350.398 C17.800.827.250.398
Concept/Terms	Ellis-Van Creveld Syndrome Ellis-Van Creveld Syndrome Ellis Van Creveld Syndrome Syndrome, Ellis-Van Creveld Ellis-Van Creveld Dysplasia Dysplasia, Ellis-Van Creveld Ellis Van Creveld Dysplasia Mesoectodermal Dysplasia Dysplasia, Mesoectodermal Mesoectodermal Dysplasias Chondroectodermal Dysplasia Chondroectodermal Dysplasias Dysplasia, Chondroectodermal

Below are MeSH descriptors whose meaning is more general than "Ellis-Van Creveld Syndrome".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Osteochondrodysplasias [C05.116.099.708]
Ellis-Van Creveld Syndrome [C05.116.099.708.327]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Ectodermal Dysplasia [C16.131.077.350]
Ellis-Van Creveld Syndrome [C16.131.077.350.398]
Skin Abnormalities [C16.131.831]
Ectodermal Dysplasia [C16.131.831.350]
Ellis-Van Creveld Syndrome [C16.131.831.350.398]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Ectodermal Dysplasia [C16.320.850.250]
Ellis-Van Creveld Syndrome [C16.320.850.250.398]
Skin and Connective Tissue Diseases [C17]
Skin Diseases [C17.800]
Skin Abnormalities [C17.800.804]
Ectodermal Dysplasia [C17.800.804.350]
Ellis-Van Creveld Syndrome [C17.800.804.350.398]
Skin Diseases, Genetic [C17.800.827]
Ectodermal Dysplasia [C17.800.827.250]
Ellis-Van Creveld Syndrome [C17.800.827.250.398]

Below are MeSH descriptors whose meaning is more specific than "Ellis-Van Creveld Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Ellis-Van Creveld Syndrome" by people in this website by year, and whether "Ellis-Van Creveld Syndrome" was a major or minor topic of these publications.

Bar chart showing 5 publications over 5 distinct years, with a maximum of 1 publications in 2010 and 2015 and 2016 and 2017 and 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2010	1	0	1
2015	1	0	1
2016	0	1	1
2017	1	0	1
2019	0	1	1

Below are the most recent publications written about "Ellis-Van Creveld Syndrome" by people in Profiles.

Picariello T, Brown JM, Hou Y, Swank G, Cochran DA, King OD, Lechtreck K, Pazour GJ, Witman GB. A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia. J Cell Sci. 2019 02 11; 132(3).

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Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger PA, Puffenberger EG, Strauss KA. Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia. J Pediatr. 2017 12; 191:145-151.

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Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivi?re JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet. 2016 12; 90(6):509-517.

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Schmidts M, Hou Y, Cort?s CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 05; 6:7074.

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Ginns EI, Galdzicka M, Elston RC, Song YE, Paul SM, Egeland JA. Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder. Mol Psychiatry. 2015 Oct; 20(10):1212-8.

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O'Connor MJ, Rider NL, Thomas Collins R, Hanna BD, Holmes Morton D, Strauss KA. Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases. Cardiol Young. 2011 Apr; 21(2):145-52.

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Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002 Dec; 77(4):291-5.

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